Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles. Adult late-onset Pompe disease (LOPD) is a slowly progressive disease of pr...

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Detalles Bibliográficos
Autores principales: Zhang, Huiting, Chen, Jun, Zhu, Yuchang, Ma, Xiaotang, Zhong, Wangtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977516/
https://www.ncbi.nlm.nih.gov/pubmed/35386406
http://dx.doi.org/10.3389/fneur.2022.839263

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